CA2866405A1 - Identification of channelopsin-2 (chop2) mutations and methods of use - Google Patents
Identification of channelopsin-2 (chop2) mutations and methods of use Download PDFInfo
- Publication number
- CA2866405A1 CA2866405A1 CA2866405A CA2866405A CA2866405A1 CA 2866405 A1 CA2866405 A1 CA 2866405A1 CA 2866405 A CA2866405 A CA 2866405A CA 2866405 A CA2866405 A CA 2866405A CA 2866405 A1 CA2866405 A1 CA 2866405A1
- Authority
- CA
- Canada
- Prior art keywords
- molecule
- amino acid
- cell
- polypeptide molecule
- polypeptide
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Pending
Links
- 238000000034 method Methods 0.000 title claims abstract description 42
- 230000035772 mutation Effects 0.000 title description 20
- 229920001184 polypeptide Polymers 0.000 claims abstract description 92
- 102000004196 processed proteins & peptides Human genes 0.000 claims abstract description 92
- 108090000765 processed proteins & peptides Proteins 0.000 claims abstract description 92
- 230000004438 eyesight Effects 0.000 claims abstract description 52
- 108090000623 proteins and genes Proteins 0.000 claims abstract description 52
- 150000007523 nucleic acids Chemical class 0.000 claims abstract description 45
- 108020004707 nucleic acids Proteins 0.000 claims abstract description 43
- 102000039446 nucleic acids Human genes 0.000 claims abstract description 43
- 102000004169 proteins and genes Human genes 0.000 claims abstract description 40
- 239000000203 mixture Substances 0.000 claims abstract description 30
- 230000001771 impaired effect Effects 0.000 claims abstract description 6
- 210000004027 cell Anatomy 0.000 claims description 126
- 235000001014 amino acid Nutrition 0.000 claims description 94
- 125000003275 alpha amino acid group Chemical group 0.000 claims description 87
- 210000003994 retinal ganglion cell Anatomy 0.000 claims description 46
- 230000000007 visual effect Effects 0.000 claims description 43
- 235000018102 proteins Nutrition 0.000 claims description 38
- 206010034960 Photophobia Diseases 0.000 claims description 26
- 210000000411 amacrine cell Anatomy 0.000 claims description 26
- 208000013469 light sensitivity Diseases 0.000 claims description 26
- 230000004044 response Effects 0.000 claims description 24
- 235000018417 cysteine Nutrition 0.000 claims description 23
- XUJNEKJLAYXESH-UHFFFAOYSA-N cysteine Natural products SCC(N)C(O)=O XUJNEKJLAYXESH-UHFFFAOYSA-N 0.000 claims description 23
- 150000001413 amino acids Chemical class 0.000 claims description 21
- ROHFNLRQFUQHCH-YFKPBYRVSA-N L-leucine Chemical compound CC(C)C[C@H](N)C(O)=O ROHFNLRQFUQHCH-YFKPBYRVSA-N 0.000 claims description 17
- ROHFNLRQFUQHCH-UHFFFAOYSA-N Leucine Natural products CC(C)CC(N)C(O)=O ROHFNLRQFUQHCH-UHFFFAOYSA-N 0.000 claims description 17
- AYFVYJQAPQTCCC-UHFFFAOYSA-N Threonine Natural products CC(O)C(N)C(O)=O AYFVYJQAPQTCCC-UHFFFAOYSA-N 0.000 claims description 17
- 239000004473 Threonine Substances 0.000 claims description 17
- 108091008695 photoreceptors Proteins 0.000 claims description 17
- QNAYBMKLOCPYGJ-REOHCLBHSA-N L-alanine Chemical compound C[C@H](N)C(O)=O QNAYBMKLOCPYGJ-REOHCLBHSA-N 0.000 claims description 16
- 235000004279 alanine Nutrition 0.000 claims description 16
- 230000000763 evoking effect Effects 0.000 claims description 14
- 208000022873 Ocular disease Diseases 0.000 claims description 13
- 239000007924 injection Substances 0.000 claims description 13
- 238000002347 injection Methods 0.000 claims description 13
- 210000002508 rod bipolar cell Anatomy 0.000 claims description 13
- 210000002287 horizontal cell Anatomy 0.000 claims description 12
- 208000007014 Retinitis pigmentosa Diseases 0.000 claims description 8
- MTCFGRXMJLQNBG-UHFFFAOYSA-N Serine Natural products OCC(N)C(O)=O MTCFGRXMJLQNBG-UHFFFAOYSA-N 0.000 claims description 8
- 230000001965 increasing effect Effects 0.000 claims description 8
- 210000000857 visual cortex Anatomy 0.000 claims description 8
- 239000003937 drug carrier Substances 0.000 claims description 6
- 238000001727 in vivo Methods 0.000 claims description 6
- 238000000338 in vitro Methods 0.000 claims description 5
- 208000002780 macular degeneration Diseases 0.000 claims description 4
- 238000011065 in-situ storage Methods 0.000 claims description 2
- 230000016732 phototransduction Effects 0.000 abstract description 4
- 108091006146 Channels Proteins 0.000 description 34
- 210000001525 retina Anatomy 0.000 description 32
- NCYCYZXNIZJOKI-UHFFFAOYSA-N vitamin A aldehyde Natural products O=CC=C(C)C=CC=C(C)C=CC1=C(C)CCCC1(C)C NCYCYZXNIZJOKI-UHFFFAOYSA-N 0.000 description 26
- 230000014509 gene expression Effects 0.000 description 25
- 230000002207 retinal effect Effects 0.000 description 24
- 210000000608 photoreceptor cell Anatomy 0.000 description 16
- 238000012360 testing method Methods 0.000 description 16
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 15
- 230000000694 effects Effects 0.000 description 14
- 238000012421 spiking Methods 0.000 description 14
- 208000003098 Ganglion Cysts Diseases 0.000 description 13
- 241000699670 Mus sp. Species 0.000 description 13
- 208000005400 Synovial Cyst Diseases 0.000 description 13
- 210000001508 eye Anatomy 0.000 description 13
- 230000037361 pathway Effects 0.000 description 12
- 201000004569 Blindness Diseases 0.000 description 11
- 230000001404 mediated effect Effects 0.000 description 11
- 210000001116 retinal neuron Anatomy 0.000 description 11
- 208000035475 disorder Diseases 0.000 description 9
- 230000007935 neutral effect Effects 0.000 description 8
- 210000000225 synapse Anatomy 0.000 description 8
- 238000012549 training Methods 0.000 description 8
- 241000195597 Chlamydomonas reinhardtii Species 0.000 description 7
- 108050001704 Opsin Proteins 0.000 description 7
- 102000010175 Opsin Human genes 0.000 description 6
- 210000004556 brain Anatomy 0.000 description 6
- 230000007850 degeneration Effects 0.000 description 6
- 201000010099 disease Diseases 0.000 description 6
- 230000006870 function Effects 0.000 description 6
- 238000005286 illumination Methods 0.000 description 6
- 230000028161 membrane depolarization Effects 0.000 description 6
- 210000002569 neuron Anatomy 0.000 description 6
- 210000000964 retinal cone photoreceptor cell Anatomy 0.000 description 6
- 230000000638 stimulation Effects 0.000 description 6
- 230000002123 temporal effect Effects 0.000 description 6
- 239000013598 vector Substances 0.000 description 6
- -1 Ca2+ ions Chemical class 0.000 description 5
- 241001465754 Metazoa Species 0.000 description 5
- 230000004913 activation Effects 0.000 description 5
- 230000009849 deactivation Effects 0.000 description 5
- 230000002458 infectious effect Effects 0.000 description 5
- 210000000880 retinal rod photoreceptor cell Anatomy 0.000 description 5
- 108020004414 DNA Proteins 0.000 description 4
- 108700008625 Reporter Genes Proteins 0.000 description 4
- 102100040756 Rhodopsin Human genes 0.000 description 4
- 108700019146 Transgenes Proteins 0.000 description 4
- 241000700605 Viruses Species 0.000 description 4
- 238000004458 analytical method Methods 0.000 description 4
- 230000002238 attenuated effect Effects 0.000 description 4
- 230000008901 benefit Effects 0.000 description 4
- 239000012634 fragment Substances 0.000 description 4
- 238000001415 gene therapy Methods 0.000 description 4
- 230000002068 genetic effect Effects 0.000 description 4
- 239000007943 implant Substances 0.000 description 4
- 208000015181 infectious disease Diseases 0.000 description 4
- 230000007774 longterm Effects 0.000 description 4
- 108020004999 messenger RNA Proteins 0.000 description 4
- 239000002773 nucleotide Substances 0.000 description 4
- 125000003729 nucleotide group Chemical group 0.000 description 4
- 108091033319 polynucleotide Proteins 0.000 description 4
- 102000040430 polynucleotide Human genes 0.000 description 4
- 239000002157 polynucleotide Substances 0.000 description 4
- 239000000243 solution Substances 0.000 description 4
- 239000013603 viral vector Substances 0.000 description 4
- 230000004393 visual impairment Effects 0.000 description 4
- 241000702421 Dependoparvovirus Species 0.000 description 3
- PEDCQBHIVMGVHV-UHFFFAOYSA-N Glycerine Chemical compound OCC(O)CO PEDCQBHIVMGVHV-UHFFFAOYSA-N 0.000 description 3
- 102100038300 Metabotropic glutamate receptor 6 Human genes 0.000 description 3
- 206010029350 Neurotoxicity Diseases 0.000 description 3
- 206010034972 Photosensitivity reaction Diseases 0.000 description 3
- 201000007737 Retinal degeneration Diseases 0.000 description 3
- 208000017442 Retinal disease Diseases 0.000 description 3
- NCYCYZXNIZJOKI-OVSJKPMPSA-N Retinaldehyde Chemical compound O=C\C=C(/C)\C=C\C=C(/C)\C=C\C1=C(C)CCCC1(C)C NCYCYZXNIZJOKI-OVSJKPMPSA-N 0.000 description 3
- 206010038923 Retinopathy Diseases 0.000 description 3
- 206010044221 Toxic encephalopathy Diseases 0.000 description 3
- 238000010171 animal model Methods 0.000 description 3
- 150000001768 cations Chemical class 0.000 description 3
- 238000001514 detection method Methods 0.000 description 3
- 230000005670 electromagnetic radiation Effects 0.000 description 3
- 238000010304 firing Methods 0.000 description 3
- 230000006872 improvement Effects 0.000 description 3
- 230000004298 light response Effects 0.000 description 3
- 230000033001 locomotion Effects 0.000 description 3
- 238000005259 measurement Methods 0.000 description 3
- 108010038450 metabotropic glutamate receptor 6 Proteins 0.000 description 3
- 238000010172 mouse model Methods 0.000 description 3
- 231100000228 neurotoxicity Toxicity 0.000 description 3
- 230000007135 neurotoxicity Effects 0.000 description 3
- 239000002245 particle Substances 0.000 description 3
- 230000008447 perception Effects 0.000 description 3
- 230000036211 photosensitivity Effects 0.000 description 3
- 230000001179 pupillary effect Effects 0.000 description 3
- 230000004296 scotopic vision Effects 0.000 description 3
- 239000000126 substance Substances 0.000 description 3
- 210000001519 tissue Anatomy 0.000 description 3
- NCYCYZXNIZJOKI-IOUUIBBYSA-N 11-cis-retinal Chemical compound O=C/C=C(\C)/C=C\C=C(/C)\C=C\C1=C(C)CCCC1(C)C NCYCYZXNIZJOKI-IOUUIBBYSA-N 0.000 description 2
- 241000702423 Adeno-associated virus - 2 Species 0.000 description 2
- 108700037328 Chlamydomonas reinhardtii chlamyopsin Proteins 0.000 description 2
- 108020004705 Codon Proteins 0.000 description 2
- 206010010356 Congenital anomaly Diseases 0.000 description 2
- 108010050754 Halorhodopsins Proteins 0.000 description 2
- 102000004310 Ion Channels Human genes 0.000 description 2
- 108090000862 Ion Channels Proteins 0.000 description 2
- 208000010415 Low Vision Diseases 0.000 description 2
- YJPIGAIKUZMOQA-UHFFFAOYSA-N Melatonin Natural products COC1=CC=C2N(C(C)=O)C=C(CCN)C2=C1 YJPIGAIKUZMOQA-UHFFFAOYSA-N 0.000 description 2
- 108091028043 Nucleic acid sequence Proteins 0.000 description 2
- 101710131038 Opsin-2 Proteins 0.000 description 2
- 101710097927 Retinal-binding protein Proteins 0.000 description 2
- 108090000820 Rhodopsin Proteins 0.000 description 2
- UIIMBOGNXHQVGW-UHFFFAOYSA-M Sodium bicarbonate Chemical compound [Na+].OC([O-])=O UIIMBOGNXHQVGW-UHFFFAOYSA-M 0.000 description 2
- 230000009471 action Effects 0.000 description 2
- 230000036982 action potential Effects 0.000 description 2
- 238000013459 approach Methods 0.000 description 2
- 210000003050 axon Anatomy 0.000 description 2
- 230000003542 behavioural effect Effects 0.000 description 2
- 230000005540 biological transmission Effects 0.000 description 2
- 210000003169 central nervous system Anatomy 0.000 description 2
- 230000002060 circadian Effects 0.000 description 2
- 230000001054 cortical effect Effects 0.000 description 2
- 230000006378 damage Effects 0.000 description 2
- 230000034994 death Effects 0.000 description 2
- 230000007547 defect Effects 0.000 description 2
- 230000003292 diminished effect Effects 0.000 description 2
- 238000002474 experimental method Methods 0.000 description 2
- 238000009472 formulation Methods 0.000 description 2
- 108020001507 fusion proteins Proteins 0.000 description 2
- 102000037865 fusion proteins Human genes 0.000 description 2
- 230000036541 health Effects 0.000 description 2
- 230000004305 hyperopia Effects 0.000 description 2
- 201000006318 hyperopia Diseases 0.000 description 2
- 230000002102 hyperpolarization Effects 0.000 description 2
- 230000010365 information processing Effects 0.000 description 2
- 230000002401 inhibitory effect Effects 0.000 description 2
- 230000004446 light reflex Effects 0.000 description 2
- 230000004303 low vision Effects 0.000 description 2
- 230000007246 mechanism Effects 0.000 description 2
- 229960003987 melatonin Drugs 0.000 description 2
- DRLFMBDRBRZALE-UHFFFAOYSA-N melatonin Chemical compound COC1=CC=C2NC=C(CCNC(C)=O)C2=C1 DRLFMBDRBRZALE-UHFFFAOYSA-N 0.000 description 2
- 230000004048 modification Effects 0.000 description 2
- 238000012986 modification Methods 0.000 description 2
- 230000004379 myopia Effects 0.000 description 2
- 208000001491 myopia Diseases 0.000 description 2
- 210000000653 nervous system Anatomy 0.000 description 2
- 210000001328 optic nerve Anatomy 0.000 description 2
- 230000036961 partial effect Effects 0.000 description 2
- 239000008194 pharmaceutical composition Substances 0.000 description 2
- 239000013612 plasmid Substances 0.000 description 2
- 238000002360 preparation method Methods 0.000 description 2
- 230000005855 radiation Effects 0.000 description 2
- 238000011084 recovery Methods 0.000 description 2
- 230000025474 response to light stimulus Effects 0.000 description 2
- 102000024458 retinal binding proteins Human genes 0.000 description 2
- 230000004258 retinal degeneration Effects 0.000 description 2
- 210000003786 sclera Anatomy 0.000 description 2
- 230000001953 sensory effect Effects 0.000 description 2
- 230000008685 targeting Effects 0.000 description 2
- 230000001225 therapeutic effect Effects 0.000 description 2
- 238000002560 therapeutic procedure Methods 0.000 description 2
- 238000010361 transduction Methods 0.000 description 2
- 230000026683 transduction Effects 0.000 description 2
- 241000701161 unidentified adenovirus Species 0.000 description 2
- 230000003612 virological effect Effects 0.000 description 2
- 230000004304 visual acuity Effects 0.000 description 2
- 230000001755 vocal effect Effects 0.000 description 2
- XLYOFNOQVPJJNP-UHFFFAOYSA-N water Substances O XLYOFNOQVPJJNP-UHFFFAOYSA-N 0.000 description 2
- 229910052724 xenon Inorganic materials 0.000 description 2
- FHNFHKCVQCLJFQ-UHFFFAOYSA-N xenon atom Chemical compound [Xe] FHNFHKCVQCLJFQ-UHFFFAOYSA-N 0.000 description 2
- JKMHFZQWWAIEOD-UHFFFAOYSA-N 2-[4-(2-hydroxyethyl)piperazin-1-yl]ethanesulfonic acid Chemical compound OCC[NH+]1CCN(CCS([O-])(=O)=O)CC1 JKMHFZQWWAIEOD-UHFFFAOYSA-N 0.000 description 1
- GOJUJUVQIVIZAV-UHFFFAOYSA-N 2-amino-4,6-dichloropyrimidine-5-carbaldehyde Chemical group NC1=NC(Cl)=C(C=O)C(Cl)=N1 GOJUJUVQIVIZAV-UHFFFAOYSA-N 0.000 description 1
- ZOOGRGPOEVQQDX-UUOKFMHZSA-N 3',5'-cyclic GMP Chemical compound C([C@H]1O2)OP(O)(=O)O[C@H]1[C@@H](O)[C@@H]2N1C(N=C(NC2=O)N)=C2N=C1 ZOOGRGPOEVQQDX-UUOKFMHZSA-N 0.000 description 1
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 description 1
- 206010001258 Adenoviral infections Diseases 0.000 description 1
- 206010005176 Blindness congenital Diseases 0.000 description 1
- 208000002177 Cataract Diseases 0.000 description 1
- 108091005462 Cation channels Proteins 0.000 description 1
- VEXZGXHMUGYJMC-UHFFFAOYSA-M Chloride anion Chemical compound [Cl-] VEXZGXHMUGYJMC-UHFFFAOYSA-M 0.000 description 1
- 241000195628 Chlorophyta Species 0.000 description 1
- 102000010970 Connexin Human genes 0.000 description 1
- 108050001175 Connexin Proteins 0.000 description 1
- 206010012689 Diabetic retinopathy Diseases 0.000 description 1
- 101100351286 Dictyostelium discoideum pdeE gene Proteins 0.000 description 1
- 206010052804 Drug tolerance Diseases 0.000 description 1
- 208000020564 Eye injury Diseases 0.000 description 1
- 208000010412 Glaucoma Diseases 0.000 description 1
- WQZGKKKJIJFFOK-GASJEMHNSA-N Glucose Natural products OC[C@H]1OC(O)[C@H](O)[C@@H](O)[C@@H]1O WQZGKKKJIJFFOK-GASJEMHNSA-N 0.000 description 1
- 239000007995 HEPES buffer Substances 0.000 description 1
- 208000003923 Hereditary Corneal Dystrophies Diseases 0.000 description 1
- 241000282412 Homo Species 0.000 description 1
- 206010020675 Hypermetropia Diseases 0.000 description 1
- 208000026350 Inborn Genetic disease Diseases 0.000 description 1
- 201000002287 Keratoconus Diseases 0.000 description 1
- YQEZLKZALYSWHR-UHFFFAOYSA-N Ketamine Chemical compound C=1C=CC=C(Cl)C=1C1(NC)CCCCC1=O YQEZLKZALYSWHR-UHFFFAOYSA-N 0.000 description 1
- 241000713666 Lentivirus Species 0.000 description 1
- 241000124008 Mammalia Species 0.000 description 1
- 102100025912 Melanopsin Human genes 0.000 description 1
- 101100135809 Mus musculus Pcp2 gene Proteins 0.000 description 1
- 108010021466 Mutant Proteins Proteins 0.000 description 1
- 102000008300 Mutant Proteins Human genes 0.000 description 1
- 239000000020 Nitrocellulose Substances 0.000 description 1
- 102000004861 Phosphoric Diester Hydrolases Human genes 0.000 description 1
- 108090001050 Phosphoric Diester Hydrolases Proteins 0.000 description 1
- 206010038848 Retinal detachment Diseases 0.000 description 1
- 208000032430 Retinal dystrophy Diseases 0.000 description 1
- 108091006629 SLC13A2 Proteins 0.000 description 1
- 239000002262 Schiff base Substances 0.000 description 1
- 150000004753 Schiff bases Chemical class 0.000 description 1
- 206010064930 age-related macular degeneration Diseases 0.000 description 1
- 230000003466 anti-cipated effect Effects 0.000 description 1
- 238000003556 assay Methods 0.000 description 1
- 230000006399 behavior Effects 0.000 description 1
- 238000009227 behaviour therapy Methods 0.000 description 1
- 230000033228 biological regulation Effects 0.000 description 1
- 230000015572 biosynthetic process Effects 0.000 description 1
- 208000002352 blister Diseases 0.000 description 1
- 239000000872 buffer Substances 0.000 description 1
- 239000007975 buffered saline Substances 0.000 description 1
- 230000003915 cell function Effects 0.000 description 1
- 210000000170 cell membrane Anatomy 0.000 description 1
- 230000001413 cellular effect Effects 0.000 description 1
- 238000006243 chemical reaction Methods 0.000 description 1
- 230000027288 circadian rhythm Effects 0.000 description 1
- 230000004456 color vision Effects 0.000 description 1
- 201000008615 cone dystrophy Diseases 0.000 description 1
- 208000006623 congenital stationary night blindness Diseases 0.000 description 1
- 210000004087 cornea Anatomy 0.000 description 1
- 206010011005 corneal dystrophy Diseases 0.000 description 1
- 230000002596 correlated effect Effects 0.000 description 1
- 230000000875 corresponding effect Effects 0.000 description 1
- 210000000695 crystalline len Anatomy 0.000 description 1
- ZOOGRGPOEVQQDX-UHFFFAOYSA-N cyclic GMP Natural products O1C2COP(O)(=O)OC2C(O)C1N1C=NC2=C1NC(N)=NC2=O ZOOGRGPOEVQQDX-UHFFFAOYSA-N 0.000 description 1
- 230000006735 deficit Effects 0.000 description 1
- 230000003412 degenerative effect Effects 0.000 description 1
- 230000001419 dependent effect Effects 0.000 description 1
- 230000002999 depolarising effect Effects 0.000 description 1
- 230000009547 development abnormality Effects 0.000 description 1
- 230000004069 differentiation Effects 0.000 description 1
- 239000003085 diluting agent Substances 0.000 description 1
- 239000003814 drug Substances 0.000 description 1
- 230000009977 dual effect Effects 0.000 description 1
- 230000002708 enhancing effect Effects 0.000 description 1
- 230000007613 environmental effect Effects 0.000 description 1
- 238000011124 ex vivo culture Methods 0.000 description 1
- 210000001723 extracellular space Anatomy 0.000 description 1
- 230000004424 eye movement Effects 0.000 description 1
- 210000000744 eyelid Anatomy 0.000 description 1
- 230000003371 gabaergic effect Effects 0.000 description 1
- 210000003976 gap junction Anatomy 0.000 description 1
- 238000012239 gene modification Methods 0.000 description 1
- 208000016361 genetic disease Diseases 0.000 description 1
- 230000005017 genetic modification Effects 0.000 description 1
- 235000013617 genetically modified food Nutrition 0.000 description 1
- 239000008103 glucose Substances 0.000 description 1
- 230000000575 glycinergic effect Effects 0.000 description 1
- 230000026781 habituation Effects 0.000 description 1
- 210000003128 head Anatomy 0.000 description 1
- 229940088597 hormone Drugs 0.000 description 1
- 239000005556 hormone Substances 0.000 description 1
- 238000012744 immunostaining Methods 0.000 description 1
- 230000001939 inductive effect Effects 0.000 description 1
- 230000031146 intracellular signal transduction Effects 0.000 description 1
- 239000007928 intraperitoneal injection Substances 0.000 description 1
- 229960003299 ketamine Drugs 0.000 description 1
- 230000013016 learning Effects 0.000 description 1
- 230000000670 limiting effect Effects 0.000 description 1
- 208000018769 loss of vision Diseases 0.000 description 1
- 231100000864 loss of vision Toxicity 0.000 description 1
- 230000007257 malfunction Effects 0.000 description 1
- 239000003550 marker Substances 0.000 description 1
- 108010005417 melanopsin Proteins 0.000 description 1
- 235000019799 monosodium phosphate Nutrition 0.000 description 1
- 230000008555 neuronal activation Effects 0.000 description 1
- 230000003472 neutralizing effect Effects 0.000 description 1
- 229920001220 nitrocellulos Polymers 0.000 description 1
- 210000002597 off-bipolar cell Anatomy 0.000 description 1
- 210000001743 on-bipolar cell Anatomy 0.000 description 1
- 210000003977 optic chiasm Anatomy 0.000 description 1
- 210000005112 optic tract Anatomy 0.000 description 1
- 230000004421 optic tracts Effects 0.000 description 1
- 230000003287 optical effect Effects 0.000 description 1
- 230000004466 optokinetic reflex Effects 0.000 description 1
- 101150037969 pde-6 gene Proteins 0.000 description 1
- 230000000737 periodic effect Effects 0.000 description 1
- 230000002085 persistent effect Effects 0.000 description 1
- 239000000546 pharmaceutical excipient Substances 0.000 description 1
- 230000004310 photopic vision Effects 0.000 description 1
- 239000011148 porous material Substances 0.000 description 1
- 238000004321 preservation Methods 0.000 description 1
- 238000012545 processing Methods 0.000 description 1
- 230000000069 prophylactic effect Effects 0.000 description 1
- 210000001747 pupil Anatomy 0.000 description 1
- 239000013608 rAAV vector Substances 0.000 description 1
- 230000009467 reduction Effects 0.000 description 1
- 230000011514 reflex Effects 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 210000003569 retinal bipolar cell Anatomy 0.000 description 1
- 230000004264 retinal detachment Effects 0.000 description 1
- 230000004243 retinal function Effects 0.000 description 1
- 210000003583 retinal pigment epithelium Anatomy 0.000 description 1
- 210000004761 scalp Anatomy 0.000 description 1
- 230000035945 sensitivity Effects 0.000 description 1
- 230000019491 signal transduction Effects 0.000 description 1
- 229910000030 sodium bicarbonate Inorganic materials 0.000 description 1
- 235000017557 sodium bicarbonate Nutrition 0.000 description 1
- AJPJDKMHJJGVTQ-UHFFFAOYSA-M sodium dihydrogen phosphate Chemical compound [Na+].OP(O)([O-])=O AJPJDKMHJJGVTQ-UHFFFAOYSA-M 0.000 description 1
- 229910000162 sodium phosphate Inorganic materials 0.000 description 1
- 238000006467 substitution reaction Methods 0.000 description 1
- 239000000758 substrate Substances 0.000 description 1
- 239000000725 suspension Substances 0.000 description 1
- 208000024891 symptom Diseases 0.000 description 1
- 230000000946 synaptic effect Effects 0.000 description 1
- 230000009466 transformation Effects 0.000 description 1
- 241001430294 unidentified retrovirus Species 0.000 description 1
- 239000003981 vehicle Substances 0.000 description 1
- 210000002845 virion Anatomy 0.000 description 1
- 238000002645 vision therapy Methods 0.000 description 1
- 230000003945 visual behavior Effects 0.000 description 1
- 230000004382 visual function Effects 0.000 description 1
- BPICBUSOMSTKRF-UHFFFAOYSA-N xylazine Chemical compound CC1=CC=CC(C)=C1NC1=NCCCS1 BPICBUSOMSTKRF-UHFFFAOYSA-N 0.000 description 1
- 229960001600 xylazine Drugs 0.000 description 1
Classifications
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/405—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from algae
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K38/00—Medicinal preparations containing peptides
- A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P27/00—Drugs for disorders of the senses
- A61P27/02—Ophthalmic agents
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
Landscapes
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Medicinal Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Gastroenterology & Hepatology (AREA)
- Molecular Biology (AREA)
- Genetics & Genomics (AREA)
- Biophysics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Veterinary Medicine (AREA)
- Animal Behavior & Ethology (AREA)
- Pharmacology & Pharmacy (AREA)
- Public Health (AREA)
- Biotechnology (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Chemical Kinetics & Catalysis (AREA)
- General Chemical & Material Sciences (AREA)
- Ophthalmology & Optometry (AREA)
- Immunology (AREA)
- Epidemiology (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Peptides Or Proteins (AREA)
- Micro-Organisms Or Cultivation Processes Thereof (AREA)
- Medicines Containing Material From Animals Or Micro-Organisms (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
- Preparation Of Compounds By Using Micro-Organisms (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201261606663P | 2012-03-05 | 2012-03-05 | |
| US61/606,663 | 2012-03-05 | ||
| PCT/US2013/029171 WO2013134295A1 (en) | 2012-03-05 | 2013-03-05 | Identification of channelrhodopsin-2 (chop2) mutations and methods of use |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA2866405A1 true CA2866405A1 (en) | 2013-09-12 |
Family
ID=47892055
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2866405A Pending CA2866405A1 (en) | 2012-03-05 | 2013-03-05 | Identification of channelopsin-2 (chop2) mutations and methods of use |
Country Status (16)
| Country | Link |
|---|---|
| US (3) | US10947281B2 (enExample) |
| EP (1) | EP2822964B1 (enExample) |
| JP (3) | JP6395611B2 (enExample) |
| KR (1) | KR102137717B1 (enExample) |
| CN (2) | CN111378020A (enExample) |
| AU (4) | AU2013230112A1 (enExample) |
| CA (1) | CA2866405A1 (enExample) |
| DK (1) | DK2822964T3 (enExample) |
| EA (1) | EA201491643A1 (enExample) |
| ES (1) | ES2703324T3 (enExample) |
| HU (1) | HUE040487T2 (enExample) |
| MX (1) | MX360085B (enExample) |
| NZ (1) | NZ629843A (enExample) |
| PL (1) | PL2822964T3 (enExample) |
| PT (1) | PT2822964T (enExample) |
| WO (1) | WO2013134295A1 (enExample) |
Families Citing this family (14)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US8470790B2 (en) | 2006-05-04 | 2013-06-25 | Wayne State University | Restoration of visual responses by in vivo delivery of rhodopsin nucleic acids |
| US9453241B2 (en) | 2010-05-04 | 2016-09-27 | Wayne State University | AAV-mediated subcellular targeting of heterologous rhodopsins in retinal ganglion cells |
| CN111378020A (zh) | 2012-03-05 | 2020-07-07 | 韦恩州立大学 | 通道视蛋白-2(Chop2)突变的鉴定及使用方法 |
| WO2014160281A2 (en) | 2013-03-14 | 2014-10-02 | Wayne State University | Method of enhancing delivery of therapeutic compounds to the eye |
| US10234761B2 (en) | 2013-07-08 | 2019-03-19 | Basf Se | Oxime ester photoinitiators |
| WO2015138616A1 (en) | 2014-03-11 | 2015-09-17 | Wayne State University | A modified mglur6 promoter and methods of use |
| KR20230160967A (ko) | 2016-05-03 | 2023-11-24 | 웨인 스테이트 유니버시티 | 프로테오좀 억제제를 사용하여 눈에서 바이러스 매개 유전자 전달을 향상시키는 방법 |
| JP2019522469A (ja) * | 2016-06-03 | 2019-08-15 | マックス−プランク−ゲゼルシャフト ツア フェルデルンク デア ヴィッセンシャフテン エー.ファウ. | チャネルロドプシンの変異型光誘導性イオンチャネル |
| RU2019109021A (ru) * | 2016-08-29 | 2020-09-29 | Уэйн Стейт Юниверсити | Идентификация мутаций в вариантах каналопсина, имеющих улучшенную чувствительность к свету, и способы их применения |
| WO2018106369A2 (en) * | 2016-11-06 | 2018-06-14 | Nanoscope Technologies Llc | Optogenetic modulation by multi-characteristic opsins for vision restoration and other applications thereof |
| WO2018189247A1 (en) * | 2017-04-12 | 2018-10-18 | MAX-PLANCK-Gesellschaft zur Förderung der Wissenschaften e.V. | New optogenetic tool |
| SG11202004940VA (en) * | 2017-12-04 | 2020-06-29 | Salvat Lab Sa | Ophthalmic topical composition comprising dobesilic acid for treating diseases of the posterior segment of the eye |
| JP6567153B1 (ja) * | 2018-09-28 | 2019-08-28 | 学校法人東北工業大学 | 対象化合物の特性の予測を行うための方法、コンピュータシステム、プログラム |
| WO2024226667A2 (en) * | 2023-04-24 | 2024-10-31 | Nanoscope Therapeutics Inc. | Optogenetic modulation by multi-characteristic opsins for vision restoration and other applications thereof |
Family Cites Families (19)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US4554101A (en) | 1981-01-09 | 1985-11-19 | New York Blood Center, Inc. | Identification and preparation of epitopes on antigens and allergens on the basis of hydrophilicity |
| US4498919A (en) | 1983-10-31 | 1985-02-12 | Corning Glass Works | Method for making colored photochromic prescription ophthalmic lenses |
| US6610287B1 (en) | 1990-04-16 | 2003-08-26 | The General Hospital Corporation | Transfer and expression of gene sequences into nervous system cells using herpes simplex virus mutants with deletions in genes for viral replication |
| US5827702A (en) | 1994-10-31 | 1998-10-27 | Genentech, Inc. | Ocular gene therapy |
| EP0977880A2 (en) | 1997-04-21 | 2000-02-09 | University Of Florida | Materials and methods for treatment of retinal diseases |
| WO2000015822A1 (en) | 1998-09-17 | 2000-03-23 | University Of Florida | Methods for treatment of degenerative retinal diseases |
| CA2406743A1 (en) | 2000-04-28 | 2001-11-08 | The Trustees Of The University Of Pennsylvania | Recombinant aav vectors with aav5 capsids and aav5 vectors pseudotyped in heterologous capsids |
| EP1381276A4 (en) | 2001-04-13 | 2005-02-02 | Univ Pennsylvania | METHOD FOR TREATMENT OR DEVELOPMENT SLUDGE DEGRADATION |
| WO2003016486A2 (en) | 2001-08-16 | 2003-02-27 | Sloan Kettering Institute For Cancer Research | Bio-synthetic photostimulators and methods of use |
| DE10216005A1 (de) | 2002-04-11 | 2003-10-30 | Max Planck Gesellschaft | Verwendung von biologischen Photorezeptoren als direkt lichtgesteuerte Ionenkanäle |
| WO2004009022A2 (en) | 2002-07-18 | 2004-01-29 | The General Hospital Corp. | Method for augmenting vision in persons suffering from photoreceptor cell degeneration |
| US7186699B2 (en) | 2003-06-03 | 2007-03-06 | Cell Genesys, Inc. | Method for treating cancer by vector-mediated delivery of one or more anti-angiogenic or pro-apoptotic genes |
| JP2007527738A (ja) | 2003-11-05 | 2007-10-04 | ニューロヴィジョン, インコーポレイテッド | 視覚を改善するための方法および装置 |
| US20070053996A1 (en) | 2005-07-22 | 2007-03-08 | Boyden Edward S | Light-activated cation channel and uses thereof |
| US8470790B2 (en) * | 2006-05-04 | 2013-06-25 | Wayne State University | Restoration of visual responses by in vivo delivery of rhodopsin nucleic acids |
| US9453241B2 (en) | 2010-05-04 | 2016-09-27 | Wayne State University | AAV-mediated subcellular targeting of heterologous rhodopsins in retinal ganglion cells |
| SI2614079T1 (sl) * | 2010-09-08 | 2015-10-30 | Max-Planck-Gesellschaft Zur Foerderung Der Wissenschaften E.V. | Mutantski kanalnirodopsin 2 |
| CN111378020A (zh) * | 2012-03-05 | 2020-07-07 | 韦恩州立大学 | 通道视蛋白-2(Chop2)突变的鉴定及使用方法 |
| KR101639859B1 (ko) * | 2014-03-06 | 2016-07-14 | 포항공과대학교 산학협력단 | 광 자극에 의한 미토콘드리아 활성의 시공간적 가역 조절 방법 |
-
2013
- 2013-03-05 CN CN202010025519.0A patent/CN111378020A/zh active Pending
- 2013-03-05 MX MX2014010664A patent/MX360085B/es active IP Right Grant
- 2013-03-05 US US14/383,211 patent/US10947281B2/en active Active
- 2013-03-05 HU HUE13710253A patent/HUE040487T2/hu unknown
- 2013-03-05 ES ES13710253T patent/ES2703324T3/es active Active
- 2013-03-05 WO PCT/US2013/029171 patent/WO2013134295A1/en not_active Ceased
- 2013-03-05 DK DK13710253.9T patent/DK2822964T3/en active
- 2013-03-05 EP EP13710253.9A patent/EP2822964B1/en active Active
- 2013-03-05 JP JP2014561051A patent/JP6395611B2/ja active Active
- 2013-03-05 EA EA201491643A patent/EA201491643A1/ru unknown
- 2013-03-05 KR KR1020147027985A patent/KR102137717B1/ko active Active
- 2013-03-05 PT PT13710253T patent/PT2822964T/pt unknown
- 2013-03-05 NZ NZ629843A patent/NZ629843A/en unknown
- 2013-03-05 PL PL13710253T patent/PL2822964T3/pl unknown
- 2013-03-05 CA CA2866405A patent/CA2866405A1/en active Pending
- 2013-03-05 CN CN201380022635.5A patent/CN104334575A/zh active Pending
- 2013-03-05 AU AU2013230112A patent/AU2013230112A1/en not_active Abandoned
-
2017
- 2017-10-06 AU AU2017239601A patent/AU2017239601B2/en active Active
-
2018
- 2018-04-23 JP JP2018082403A patent/JP2018134098A/ja not_active Withdrawn
-
2019
- 2019-07-01 JP JP2019123061A patent/JP2019193656A/ja active Pending
- 2019-08-14 AU AU2019216638A patent/AU2019216638B2/en active Active
-
2021
- 2021-03-15 US US17/202,064 patent/US20220033449A1/en not_active Abandoned
- 2021-10-07 AU AU2021245195A patent/AU2021245195B2/en active Active
-
2024
- 2024-04-18 US US18/639,381 patent/US20250066431A1/en active Pending
Also Published As
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| AU2021245195B2 (en) | Identification of Channelopsin-2 (Chop2) mutations and methods of use | |
| US20240165198A1 (en) | Optogenetic visual restoration using chrimson | |
| JP2009536219A (ja) | ロドプシン拡散のインビボ送達による視覚応答の回復 | |
| MX2010012592A (es) | Vectores para la administracion de proteinas sensibles a la luz y metodos de uso de las mismas. | |
| KR20140039281A (ko) | 감광성 키메라 gpcr 단백질 | |
| US20230159609A1 (en) | G-protein-gated-k+ channel-mediated enhancements in light sensitivity in rod-cone dystrophy (rcd) | |
| EP3892738A1 (en) | G-protein-gated-k+ channel-mediated enhancements in light sensitivity in rod-cone dystrophy (rcd) | |
| EA043449B1 (ru) | ИДЕНТИФИКАЦИЯ МУТАЦИЙ КАНАЛ-ОПСИНА-2 (Chop2) И СПОСОБЫ ПРИМЕНЕНИЯ | |
| HK1205744B (en) | Identification of channelrhodopsin-2 (chop2) mutations and methods of use | |
| NZ727041B2 (en) | Identification of channelrhodopsin-2 (chop2) mutations and methods of use | |
| US20230338581A1 (en) | G-protein-gated-k+ channel-mediated enhancements in light sensitivity in rod-cone dystrophy (rcd) | |
| KR20230160967A (ko) | 프로테오좀 억제제를 사용하여 눈에서 바이러스 매개 유전자 전달을 향상시키는 방법 | |
| AU2022283585A1 (en) | G-protein-gated-k+ channel-mediated enhancements in light sensitivity in rod-cone dystrophy (rcd) |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| EEER | Examination request |
Effective date: 20180305 |
|
| EEER | Examination request |
Effective date: 20180305 |
|
| EEER | Examination request |
Effective date: 20180305 |
|
| EEER | Examination request |
Effective date: 20180305 |
|
| EEER | Examination request |
Effective date: 20180305 |
|
| EEER | Examination request |
Effective date: 20180305 |
|
| EEER | Examination request |
Effective date: 20180305 |
|
| EEER | Examination request |
Effective date: 20180305 |
|
| EEER | Examination request |
Effective date: 20180305 |